Jacobsen Distal 11q Deletion Syndrome

Overview

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Is a:

Disease or Syndrome

Definition:

A clinically recognized malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Most patients have a thrombocytopenia and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia. A component of Jacobsen Syndrome linked to fli1 gene at 11q23.

Synonyms:

11q Deletion Disorder
11q Deletion Syndrome
11q Terminal Deletion Disorder
11q23 Deletion Disorder
Deletion Disorder, 11q
Deletion Disorder, 11q23
Disorder, 11q Deletion
Disorder, 11q23 Deletion
Jacobsen Syndrome
Jacobsen Thrombocytopenia
Paris Trousseau Syndrome
Paris Trousseau Thrombocytopenia
Paris-Trousseau Syndrome
Paris-Trousseau Thrombocytopenia
Syndrome, 11q Deletion
Syndrome, Jacobsen
Syndrome, Paris-Trousseau
Thrombocytopenia, Jacobsen
Thrombocytopenia, Paris-Trousseau

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